Spondylocostal dysostosis

Jarcho-Levin syndromeJarcho–Levin syndromespondylocostal dysostosis 3spondylothoracic dysplasia
Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder.wikipedia
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DLL3

Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.

LFNG

lunatic fringe
Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3.

MESP2

Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.

Robinow syndrome

Covesdem syndromeAutosomal recessive Robinow syndromeRobinow-Silverman-Smith syndrome
A closely related condition termed "Costovertebral segmentation defect with mesomelia and peculiar facies", or Covesdem syndrome, was first described in 1978 in India.
Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.

Serrate RNA effector molecule homolog

SRRT
The disease is related to the SRRT gene.
Diseases associated with SRRT include spondylocostal dysostosis.

Axial skeleton

axialaxial bonesaxial muscles
Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder.

Vertebral column

spinespinal columnspinal
It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.

Rib cage

ribsribcagefirst rib
It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.

Thorax

chestthoracicthoraces
It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.

Scoliosis

curvature of the spinethoracoplastyidiopathic scoliosis
It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.

Kyphosis

hunchbackhunchbackedhump
It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.

Abdomen

abdominalabdominal musclesbelly
Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen.

Johns Hopkins University

Johns HopkinsThe Johns Hopkins UniversityJohns Hopkins Medical Institutions
The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.

David Rimoin

David L. RimoinDavid Lawrence Rimoin
In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin.

Baltimore

Baltimore, MarylandBaltimore, MDBaltimore City
In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
However, the condition within the family described in their article appeared to be inherited in an autosomal dominant fashion and had a less severe course than that reported by other investigators.

Pulmonary hypertension

pulmonary arterial hypertensionPrimary pulmonary hypertensionpulmonary artery hypertension
In both subtypes, the pulmonary restriction may result in pulmonary hypertension, and have other potential cardiac implications.

Clinician

cliniciansclinicalinterpreting clinician
While clinicians almost unanimously refer to the syndrome as "Jarcho-Levin", reports have variously labelled or referred to the condition as all of the following: Hereditary malformations of the vertebral bodies, hereditary multiple hemivertebrae, syndrome of bizarre vertebral anomalies, spondylocostal dysplasia, spondylothoracic dysplasia, costovertebral anomalies, costovertebral dysplasia, spondylothoracic dysplasia, occipito-facial-cervico-thoracic-abdomino-digital dysplasia (deemed "ridiculously long" and "unwarranted" by OMIM), and spondylocostal dysostosis.

HES7 gene

Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene.

Congenital vertebral anomaly

hemivertebraeBlock vertebraeCongenital vertebral anomalies
Jarcho-Levin syndrome,

Notch signaling pathway

NotchNotch signalingNotch receptor
This process is highly regulated as somites must have the correct size and spacing in order to avoid malformations within the axial skeleton that may potentially lead to spondylocostal dysostosis.

Congenital disorder of glycosylation

congenital disorders of glycosylationcarbohydrate-deficient glycoprotein syndromeCDG syndrome
Examples are the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with deficiencies in O-mannosylation of proteins; O-xylosylglycan synthesis defects (EXT1/EXT2-CDG (hereditary multiple exostoses) and B4GALT7-CDG (Ehlers-Danlos syndrome, progeroid variant)); O-fucosylglycan synthesis (B3GALTL-CDG (Peter’s plus syndrome) and LFNG-CDG (spondylocostal dysostosis III)).